Individual #00017972

Reference -
Gender F
Geographic origin Patra
Geographic origin Agrinio
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases BrCa
Owner name Despoina Kalfakakou


Phenotypes

Breast Cancer (BrCa)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

BRCA/FH     

Subtype     

Owner     
0000010840 50y - - - - Despoina Kalfakakou
0000010841 50y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000002197 DNA SEQ-NG-I 1 - 6 Despoina Kalfakakou



Variants

6 entries on 1 page. Showing entries 1 - 6.
Legend  

Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Variant remarks     

Genetic origin     

Segregation     

Also Known As     

Geographic Origin (for founder variants)     

Is Greek Founder     

Owner     

Gene     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
2 Parent #2 -/- g.128016978G>A - ERCC3_000015 rs4150521 - Germline - - - - Despoina Kalfakakou ERCC3 - NM_000122.1:c.2111C>T r.(?) p.(Ser704Leu)
2 Parent #2 ?/? g.233195514C>G - DIS3L2_000013 - - Germline - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.1582-12541C>G, NM_152383.4:c.2010+28C>G r.(=) p.(=)
7 Parent #2 ?/? g.6042307C>T - PMS2_000034 - - Germline - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.354-40G>A r.(=) p.(=)
8 Parent #2 ?/? g.145739430C>A - RECQL4_000094 rs372664774 - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.1940G>T - p.?
11 Parent #2 -?/-? g.108155240G>A - ATM_000063 rs3218709 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.3993+40G>A r.(=) p.(=)
17 Parent #2 ?/? g.29508699T>C - NF1_000101 rs182325576 - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.655-29T>C, NM_001042492.2:c.655-29T>C, NM_001128147.2:c.655-29T>C r.(=) p.(=)
Legend